Case Report: ETV6 c.744del gene mutation acute lymphoblastic leukemia in identical twins

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Monozygotic twins with germline ETV6 c.744del mutation developed acute lymphoblastic leukemia, highlighting genetic susceptibility.
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The ETV6:c.744del mutation is a novel germline mutation not previously reported, associated with familial hematologic malignancies.
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The elder twin achieved complete remission after chemotherapy and has remained disease-free for 42 months.
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The younger twin relapsed during maintenance therapy and underwent allogeneic stem cell transplantation, achieving remission.
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The case underscores the importance of genetic testing and family screening for pediatric patients with leukemia.

Frontiers In Pediatrics

by Xiaoxiao Xu, Huiyan Yang, Ruihan Fang, Lin Tan, Yaxin Luo, Fuyu Pei, Xuedong Wu
June 15, 2026

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